POMK (protein O-mannose kinase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84197
Gene name Gene Name - the full gene name approved by the HGNC.
Protein O-mannose kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POMK
Synonyms (NCBI Gene) Gene synonyms aliases
MDDGA12, MDDGC12, SGK196
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p11.21
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens u
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
SNP ID Visualize variation Clinical significance Consequence
rs143957574 A>G Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs149297443 A>G,T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs199756983 T>A Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs200555259 T>G Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs397509385 T>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
miRTarBase ID miRNA Experiments Reference
MIRT741775 hsa-miR-548ao-3p HITS-CLIP 23824327
MIRT741776 hsa-miR-451b HITS-CLIP 23824327
MIRT741777 hsa-miR-6501-3p HITS-CLIP 23824327
MIRT741778 hsa-miR-371b-5p HITS-CLIP 23824327
MIRT741779 hsa-miR-373-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0005515 Function Protein binding IPI 32296183, 32707033
GO:0005524 Function ATP binding IEA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615247 26267 ENSG00000185900
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H5K3
Protein name Protein O-mannose kinase (POMK) (EC 2.7.1.183) (Protein kinase-like protein SgK196) (Sugen kinase 196)
Protein function Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-manno
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07714 PK_Tyr_Ser-Thr 81 → 218 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression is observed in brain, skeletal muscle, kidney and heart in fetal and adult tissues. {ECO:0000269|PubMed:24925318}.
Sequence 
MEKQPQNSRRGLAPREVPPAVGLLLIMALMNTLLYLCLDHFFIAPRQSTVDPTHCPYGHF
RIGQMKNCSPWLSCEELRTEVRQLKRVGEGAVKRVFLSEWKEHKVALSQLTSLEMKDDFL
HGLQMLKSLQGTHVVTLLGYCEDDNTMLTEYHPLGSLSNLEETLNLSKYQNVNTWQHRLE
LAMDYVSIINYLHHSPVGTRVMCDSNDLPKTLSQYLLTSNFSILANDLDALPLVNHSSGM
LVKCGHRELHGDFVAPEQLWPYGEDVPFHDDLMPSYDEKIDIWKIPDISSFLLGHIEGSD
MVRFHLFDIHKACKSQTPSERPTAQDVLETYQKVLDTLRDAMMSQAREML
Sequence length 350
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Mannose type O-glycan biosynthesis
Metabolic pathways 		  O-linked glycosylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 rs397509385, rs587777423, rs606231306 N/A
Limb-girdle muscular dystrophy limb-girdle muscular dystrophy due to pomk deficiency rs587777423 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital Muscular Dystrophy With Cerebellar Involvement congenital muscular dystrophy with cerebellar involvement N/A N/A GenCC
Muscular dystrophy muscular dystrophy-dystroglycanopathy, type A N/A N/A GenCC
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 32852072
Encephalocele Associate 32907597
Lung Diseases Associate 32275906
Muscular Dystrophies Associate 23929950
Muscular Dystrophies Limb Girdle Associate 29910097
Vascular Remodeling Associate 32275906
Walker Warburg Syndrome Associate 29910097, 30060766, 32907597